Arthrogryposis is a condition that can affect the spine and most joints such as the hips, knees, ankles, shoulders, elbows and hands. Arthrogryposis may also be referred to as amyoplasia or arthrogryposis multiplex congenita (AMC). Escobar syndrome is a form of arthrogryposis where there is skin webbing at the joints (pterygium).
The severity of the disease varies from person to person. Treatment varies according to the cause and severity of the condition and may include physical therapy, casting, surgery, or a combination of these options. In many cases, when treatment begins at an early age, children can gradually become stronger and experience improved joint mobility and function that lasts the rest of their lives.
Arthrogryposis is a medical condition that is present in affected children from birth and occurs in about 1 in 10,000 live births. The word “arthrogryposis” is actually a catch-all term used to describe instances of joint contractures from birth. The condition is characterized by malformed or stiff joints, muscles, and tendons that result in arms, legs, hands, and/or feet having limited or no mobility. Scoliosis (a curvature of the spine) may be present in some children as well. The cognitive function of children with the condition is not affected. In fact, they are often extremely bright and communicative.
There is no one specific cause of arthrogryposis but the most common causes are genetics and intrauterine viruses. Genetic causes often only involve the hands and feet while other causes typically result in more generalized weakness and contractures.
Arthrogryposis tends to be found in its most severe form during newborn examinations. Given the various possible causes of arthrogryposis, proper diagnosis plays a very important role in determining treatment. Diagnosis methods may include MRI, muscle biopsies, blood tests, DNA testing, studies, and/or observations.